Associated Papers
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
Schröter J et al.
European Journal of Human Genetics : Ejhg, 2022
Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.
Jiang T et al.
Frontiers in Molecular Neuroscience, 2021
34489640 (PubMed )
Supplement: Table_2.XLSX › De_novo_variants
Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.
Fourel G et al.
Febs Letters, 2020
Distinct effects of tubulin isotype mutations on neurite growth in Caenorhabditis elegans.
Zheng C et al.
Molecular Biology of the Cell, 2017
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
Fallet-Bianco C et al.
Acta Neuropathologica Communications, 2014
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